rs373175587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373175587(A;T) |
Make rs373175587(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 28130164 |
Gene | HERC2 |
is a | snp |
is | mentioned by |
dbSNP | rs373175587 |
dbSNP (classic) | rs373175587 |
ClinGen | rs373175587 |
ebi | rs373175587 |
HLI | rs373175587 |
Exac | rs373175587 |
Gnomad | rs373175587 |
Varsome | rs373175587 |
LitVar | rs373175587 |
Map | rs373175587 |
PheGenI | rs373175587 |
Biobank | rs373175587 |
1000 genomes | rs373175587 |
hgdp | rs373175587 |
ensembl | rs373175587 |
geneview | rs373175587 |
scholar | rs373175587 |
rs373175587 | |
pharmgkb | rs373175587 |
gwascentral | rs373175587 |
openSNP | rs373175587 |
23andMe | rs373175587 |
SNPshot | rs373175587 |
SNPdbe | rs373175587 |
MSV3d | rs373175587 |
GWAS Ctlg | rs373175587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373175587(T;T) |
Alt | rs373175587(T;T) |
Reference | Rs373175587(A;A) |
Significance | Pathogenic |
Disease | not specified Mental retardation |
Variation | info |
Gene | HERC2 |
CLNDBN | not specified Mental retardation, autosomal recessive 38 |
Reversed | 0 |
HGVS | NC_000015.9:g.28375310A>T |
CLNSRC | |
CLNACC | RCV000454954.1, RCV000490894.1, |